Why get tested?

The test is proposed to determine the carrier status in relatives of affected individuals and in the partner of those who were found to be carriers for the purposes of family planning.

What the test detects

The test looks for deletions in exons 7 and 8 of the SMN1 gene.

What variants cause

Deletions in exons 7 and 8 of the SMN1 gene determine the carrier status of Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disease, i.e. when both parents are carriers there is a 25% chance of having an affected child.

How testing works

The test consists in performing a blood sample, in the extraction of genomic DNA and in the search for deletions in the SMN1 gene using MLPA technology.

Reporting time

Results in 15 working days.

Sensitivity and specificity

Analytical sensitivity and specificity > 99%.

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